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Successful weaning from mechanical ventilation in a patient with SMA type 1 treated with nusinersen.

Jiwon LeeSe Eun ParkDajeong LeeJoo Young SongJeehun Lee
Published in: Annals of clinical and translational neurology (2021)
SMA type 1 is the most severe type, characterized by early onset at <6 months of age, and rapid progression resulting in permanent assisted ventilation before 2 years of life. Supportive care was the only treatment until the approval of nusinersen, an antisense oligonucleotide drug that increases functional SMN protein levels. We present a case of successful weaning from permanent ventilation via tracheostomy with nusinersen in an infant who had been diagnosed with SMA type 1 at the age of one month and had become ventilator-dependent from the age of 3 months.
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